Archive for the ‘Mast Cell Activation Syndrome (MCAS)’ Category

I repost the following article because Lyme/MSIDS patients have chronically high inflammation within the body and many struggle with MCAS as well. Please read the following article and consider your own symptoms. Discuss these with your doctor.

Mast Cell Disease and Vaccination: Is There Increased Risk?

Do you or does someone you know have severe symptoms of itching, rashes, flushing, stomach or other body pain, frequent diarrhea, nausea, fatigue, brain fog, headache and severe allergies to certain foods, medications or insect stings that may include fainting episodes or anaphylaxis? Although it has been classified as a rare immune system disorder, there are indications that Mast Cell Activation Syndrome (MCAS) may be more prevalent than previously thought and people can suffer for years without being correctly diagnosed.1With severe allergies and chronic inflammatory diseases increasing in populations around the world, scientists are investigating the association between mast cell dysregulation and various brain and immune system disorders ranging from asthma, inflammatory bowel disease and chronic fatigue syndrome to ADHD, depression, autism and cancer.2345

What are Mast Cells?

Mast cells are often described as the body’s sentinels because they modulate and orchestrate the immune response and play a critical role in innate and adaptive immunity, as well as maintaining homeostasis in the body.67 Mast cells and basophils are types of white blood cells (granulocytes) that are made in the bone marrow. While basophils circulate in the blood, mast cells reside in tissues, primarily connective and mucosal tissues near blood vessels and nerves of the skin, gastrointestinal, respiratory and genitourinary tracts, and the brain.8 9

Mast cells and basophils are part of the body’s first line of defense when responding to injury or foreign antigens, such as pathogenic bacteria, viruses, parasites, protozoa, fungi and toxins.10 During the immune system’s normal protective response to a perceived threat, mast cells can release over 200 potent pro-inflammatory mediators within seconds of activation, including histamine (amino acid product), heparin (anti-coagulant), tryptase (enzyme) and cytokines (cell signaling protein molecules).1112

The activation of this normal protective inflammatory response to internal or external stress increases blood flow to the site of the infection or wound to aid in healing. Acute inflammatory responses are often accompanied by the four classic signs of redness, heat, swelling and pain, which eventually disappear as cells regenerate and inflammation resolves during the healing process.13 However, allergic inflammatory responses are also provoked by mast cell activation.14

What is Mast Cell Disease and MCAS?

Mast cell activation is common and helps combat threats to our health. However, when a dysregulated immune system overproduces mast cells or when mast cell activation is out of proportion to the perceived internal or external threat, it can compromise our health.

The most serious of mast cell activation diseases (MCAD) is systemic mastocytosis, which can develop when genetically altered mast cells infiltrate and accumulate in large numbers in major organ systems, such as the skin, liver and intestines.1516 A rare form of MCAD is aggressive systemic mastocytosis, usually caused by somatic mutations in the KIT gene, which progresses rapidly and causes organ damage and failure.17 An even rarer form of mast cell disease is mast cell leukemia and mast cell sarcoma.18

Mast Cell Activation Syndrome (MCAS) is a common variation of mast cell disease and can be more or less severe depending upon epigenetic, environmental, lifestyle and other host factors. MCAS occurs when a normal amount of mast cells inappropriately and chronically release histamine and other pro-inflammatory mediators that can lead to persistent inflammation in one or more parts of the body. Over time, chronic inflammation can damage cells if inflammation cannot be resolved and every organ in the body can be affected.19

Systemic mastocytosis is estimated to affect 1 in 10,000 people. However, the prevalence of MCAS is not known and some researchers estimate the less serious forms of mast cell dysregulation could affect between 10 and 30 percent of populations.2021

Symptoms of MCAS

Symptoms of MCAS can wax and wane and often various symptoms start in early childhood, although people generally do not get diagnosed for decades after symptoms appear. The effects of mast cell dysregulation can cause a plethora of diverse symptoms, depending on where the mast cells are activated in the body.

When mast cells overeact to a benign substance as if it were a foreign antigen posing a serious threat, symptoms can be life threatening like when a person has an anaphylactic reaction to peanuts.24 Mast cell over-activation and release of large amounts of histamine in the body can be unpredictable, so people with MCAS are at risk of reacting to different foods, alcohol or medications at any time, leaving them uncertain as to when they might have another reaction to something they previously were not aware was a trigger for mast cell activation.25Many people with MCAS carry an epi-pen with them in case of anaphylaxis.

Diagnosing mast cell disease is difficult and involves blood and urine testing and, less frequently, skin or bone marrow biopsy.26 Most medical doctors in general practice are not well informed about MCAS, while doctors specializing in functional medicine tend to be more familiar with symptoms. Functional medicine focuses on a personalized, integrative approach to investigating root causes of health problems by analyzing the unique genetic, epigenetic, biochemical, environmental and lifestyle factors that affect an individual’s immune function and influence the development of complex chronic diseases.

Because MCAS can present differently in different people, the goal is to identify individual triggers for mast cell activation, including food (such as gluten, dairy, baker’s yeast, shellfish, nuts, wheat, corn); or chemicals (alcohol, certain prescription medications, MSG, aspartame, artificial dyes, cleaning products); mold and spores; extreme heat or cold; vigorous exercise; stress or other potential triggers and avoid them.27 There are many unanswered questions about mast cell disease and few prescription drug treatments.28 There is evidence that certain flavonoids (such as Quercetin and Rutin) inhibit histamine release and expression of pro-inflammatory cytokines in mast cells.29

MCAS and Chronic Disease

Because overactive mast cells release pro-inflammatory mediators causing widespread inflammation in the body, MCAS has been implicated in a number of diseases that involve chronic inflammation and immune dysfunction. There is evidence that MCAS is related to allergic/inflammatory diseases, autoimmune disorders, and autism spectrum disorder.3031

Symptoms of Histamine Intolerance

Histamine is a neurotransmitter that facilitates communications between neurons throughout the nervous system. Histamine levels in the body help control the sleep and wake cycle and influence metabolism, thyroid function, reproduction and management of stress, as well as regulate body temperature, maintain fluid balance in the body and other important functions. Histamine can also increase permeability of the blood brain barrier.35

People with histamine intolerance lack sufficient levels of Diame oxidase (DAO), a gut enxyme, and histamine N-methyltransferase (HNMT), a liver enzyme, which break down and detoxify histamine in foods, medications or alcohol. When these enzymes fail to do their job, high levels of histamine circulate in the blood and cause histamine intoxication.36 Eating histamine-rich foods, drinking alcohol or taking prescription drugs that release histamine and or inhibit DAO or HNMT enzyme activity can cause high histamine levels and symptoms like diarrhea, headache, sinus congestion, heart palpitations, itching and flushing, low blood pressure and many other symptoms.

The symptoms of histamine intolerance and MCAS are similar and a person can have either histamine intolerance of MCAS or both. The main difference between the two is that histamine intolerance involves the triggering of high levels of histamine in the blood that cannot be efficiently detoxified, while MCAS involves dysregulated mast cells releasing not only histamine but multiple inflammatory and other types of mediators in tissues of the body.37

There is some evidence for genetic predisposition to histamine intolerance. Like MCAS, histamine intolerance can be hard to diagnose even with blood and urine tests. Treatment for histamine intolerance focuses on avoiding histamine rich foods and alcohol or medications that block DAO or HNMT enzyme activity. Some people with histamine intolerance take DAO supplements to help the body break down histamine or take anti-histamines to control levels of histamine in the blood.38

MCAS and Autism Spectrum Disorder

Over the past decade, a number of reports and studies have linked Autism Spectrum Disorder (ASD) with immune dysregulation and chronic inflammation in the body, including in the brain.394041 There is evidence that mast cell dysregulation is associated with Autism Spectrum Disorder (ASD).4243

Some researchers have suggested that the relationship between immune response and brain function may be negatively affected when toxins cross the blood brain barrier during a critical point in neural development, causing neurotoxicity and immune dysregulation that disrupts the natural neuron pruning process and contributes to the development of autism spectrum disorders. 44 If the immune system is dysregulated, it can affect the formation and necessary removal of physical connections between neurons that is critical to maintaining healthy brain cell function.45

ASD children have a higher rate of allergies (30%) compared to neurotypical children (2.5%). Tufts University Professor Theodore Theoharides, PhD, MD, who has conducted extensive research into mast cell disorders, has published a series of studies on the association between MCAS and autism. The evidence he has provided suggests that overactive mast cells in the brain and gut triggered by non-allergic stimulus can lead to brain inflammation and chronic brain dysfunction with symptoms diagnosed as autism. Evidence that mast cells play a role in ASD is also supported by the fact that the hypothalamus, which regulates behavior and language, houses the majority of mast cells in the brain and people with ASD often have problems associated with language and behavior.46

What Are Co-Factors for Developing MCAS?

Currently, MCAS is not considered to be a genetically inherited disease but there is evidence for epigenetic predisposition to development of MCAS as it tends to run in families, albeit with varying degrees of severity and presentations in individuals within the same family.47 Perinatal stress, environmental exposures, DNA methylation, somatic genetic mutations and interactions between microbiota and mast cells have been proposed as contributing co-factors.484950

According to University of Minnesota Professor Lawrence Afrin, MD, an oncologist and leading mast cell authority, mast cell disease can present with different manifestations and outcomes for each person because every person is unique:

“Conveying a new understanding that all mast cell disease features inappropriate mast cell activation, the new top level mast cell activation disease (MCAD) encompasses various types of rare mastocytosis and likely prevalent mast cell activation syndrome (MCAS). The apparent uniqueness in each patient with MCAD of constitutively activating mutational patterns in KIT and other mast cell regulatory elements likely is the principal driver of not only the specific clinical presentation, and therapeutic response profile, in each patient but also the great heterogeneity across this population.”51

Inflammation and Vaccination

When the immune system repeatedly mounts an inappropriate acute inflammatory response to antigens or non-allergic substances, it can lead to unwanted chronic inflammation in the body that is common to a number of immune and neuroimmune system disorders.5253Vaccination stimulates an inflammatory immune response that promotes production of antibodies and the acquisition of artificial active immunity.54 However, unlike naturally acquired immunity that involves a normal inflammatory response producing both innate (cellular) and humoral (adaptive) immunity, most vaccines manipulate the immune system in way that only stimulates production of vaccine strain antibodies and humoral immunity.55

Because vaccine acquired artificial immunity is temporary, many vaccines contain adjuvants, such as aluminum or squalene, to stimulate a strong inflammatory response in the body, which involves mast cell activation.56 There is mounting scientific evidence that when individuals cannot tolerate hyper-stimulation of the immune system, the atypical inflammatory response to vaccination can remain unresolved, become chronic, and lead to allergy and autoimmunity.57

Vaccines contain many ingredients, including chemicals, virus like protein particles and heavy metals, such as aluminum adjuvants and mercury (Thimerosal) preservatives, as well as other substances that can cause inflammation.5859 Mercury can activate and destabilize mast cells,6061 which disrupts the blood brain barrier and makes it easier for mercury to enter the brain where it can remain for long periods of time.62 Even a low concentration of mercury has been shown to activate mast cell mediators in the brain. Scientists have demonstrated that Thimerosal-derived ethylmercury is a mitochondrial toxin and may damage mitochondrial DNA.63

Polysorbate 80 is a chemical emulsifier added to some vaccines. Polysorbate 80 has the ability to help deliver substances across the protective blood brain barrier and into the brain.64When toxins enter the brain, mast cells are activated and cause inflammation.65 Polysorbate 80 has also been shown to increase histamine levels in animal studies.66

The first vaccine found to cause acute and chronic brain inflammation (acute and chronic encephalopathy) and permanent brain dysfunction was smallpox vaccine created by Edward Jenner in 1796.67 The first vaccine found to cause acute and chronic encephalopathy with permanent brain dysfunction that ranged from learning disabilities and behavior disorders to profound mental retardation was whole cell pertussis vaccine licensed in 1915 and combined in 1949 with diphtheria and tetanus vaccine to create DPT vaccine.6869 Whole cell pertussis vaccine ingredients include pertussis toxin, endotoxin, aluminum and mercury.70

Cases of pertussis vaccine-related brain inflammation followed by development of autism were first described in the book DPT: A Shot in the Dark published in 1985.7172

Is Mast Cell Disease a Risk Factor for Vaccine Reactions?

Mast cells play an important part in keeping the body healthy, but when they malfunction, can cause system wide chronic inflammation in the body that interferes with quality of life or can even cause death.

Dr. Afrin recently related the story of a patient,

“who in the first year of his life had been perfectly normal and then, within hours of his first DTP vaccine at age one, developed into just a terrible multi-system inflammatory mess, including essentially acute onset autism.” When he was 20 years old, biopsies tested positive for mast cells. He was subsequently treated for MCAS with remarkable improvement.73

Most babies in the U.S. are being given 25 doses of nine different vaccines (or more) by their first birthday and can receive eight or more vaccines simultaneously.74 As mentioned previously, there are ingredients in vaccines that provoke inflammatory responses in the body that involve mast cell activation.75

Although for the past several decades, most pediatricians and public health officials have rejected the possibility of a relationship between vaccination and the development of allergic and autoimmune disorders,76 the apparent increase in mast cell dysregulation in highly vaccinated populations deserves more in-depth investigation.

The two outstanding questions are:

Does repeated atypical manipulation of the immune system with multiple vaccines in early life trigger MCAS or development of histamine intolerance in genetically or epigenetically predisposed individuals?

Are individuals with undiagnosed MCAS or histamine intolerance at greater risk for suffering vaccine reactions, particularly if they have a personal or family history of allergy or autoimmunity?

There is urgent need for more basic science research into how and why MCAS and histamine intolerance occurs and whether vaccination is a co-factor in increasing individual risks for mast cell dysregulation.

LYME SCI: What to eat when you’re allergic to everything?

What are you going to do, when everything your child eats makes her sick? As I’ve explained in my earlier posts about mast cell activation syndrome (MCAS), virtually anything my daughter put in her mouth triggered a serious allergic reaction.

However, with the help of an incredible medical team and my daughter’s determination to succeed, we found a path to healing. I’m sharing what we did in hopes that it can help others in the same boat.

This is part four of a series on mast cell activation syndrome (MCAS) triggered by Lyme and co-infections. Part one, “When the immune system goes haywire,” serves as an introduction to MCAS; Part two, “The agony of mast cell activation syndrome (MCAS),” reviews the five-step process I used to help my child begin healing from MCAS; Part three, “More about healing from mast cell activation syndrome,” outlines the essentials to finding and eliminating food triggers.

I have been writing for LymeDisease.org since 2016. This series on MCAS has generated more comments and questions than anything else I’ve written. By far, the most frequent question I’m getting is how to survive a food intolerance crisis.

Today I will share how we got my daughter past her extreme food sensitivities. Future posts will include identifying mold, environmental and cosmetic triggers, how stress affects mast cells and the immune system, and getting your life back.

Food Crisis 101

At the beginning of this MCAS journey, our routine was very stringent. Once we found the right combination of antihistamines, and she was able to go three months without an allergic reaction, we could relax a little. Believe me, I do know what it’s like to be in food crisis, so I’ve laid out a sample of some of our favorite low-histamine foods below to help others learn the process.

In my daughter’s case, the foods we chose were specific for her genetics and their high nutritional value. Her diet is also gluten-free, dairy-free, low in sugar, low-histamine, low-oxalate, and low in sulfites. Depending on your specific needs, you may not need to eliminate all of the above ingredients, or you may need to eliminate these plus others —like foods high in salicylate, a chemical found naturally in certain foods.

The key for us was to make everything from fresh, wholesome, organic ingredients. During her crisis we went with frequent small meals. Because the act of chewing and digesting requires histamine, smaller doses were less triggering. We also eliminated all leftovers, because “aged” foods are higher in bacteria and will trigger more histamine. For a complete list of low-histamine foods click here: http://www.mastzellaktivierung.info/downloads/foodlist/21_FoodList_EN_alphabetic_withCateg.pdf

As things improved, I cooked two meals at a time. She’d eat one immediately, I’d refrigerate the other in a glass container (no plastics), and she’d eat the next meal within 3-5 hours. (This allowed me to get other things done.)

We also made sure each meal contained one protein, one carbohydrate and at least one fruit or vegetable. The following are a few suggestions of low-histamine foods that we rotated every three to four days during my daughter’s food crisis. Keep in mind if you are adding new foods the name of the game is low-and-slow, as I laid out in my previous post.

Sautéed arugula, asparagus, butter lettuce, or watercress (boiled artichoke is another good option)

*I use 100% extra virgin olive oil to sauté or bake everything. If you are salicylate-intolerant, you may have trouble with EVOO. Coconut oil and nigella sativa oil (black seed oil) are also recommended.

Note: I am not a doctor. Food allergies are unique to each individual, so it’s important that you work closely with your doctor or a registered dietitian to find and eliminate your food triggers, then design a balanced plan that works for you.

LymeSci is written by Lonnie Marcum, a Licensed Physical Therapist and mother of a daughter with Lyme. Follow her on Twitter: @LonnieRhea Email her at: lmarcum@lymedisease.org .

LYME SCI: More about healing from mast cell activation syndrome

By Lonnie Marcum

This is part three of a series on mast cell activation syndrome (MCAS) triggered by Lyme and co-infections. Part one is an introduction to MCAS including an interview with Dr. Jill Carnahan. Part two is a description of my daughter’s diagnosis of MCAS and the five-step process we used to get her back on track. In this part, I give more details about specifically how we did it.

Calming the immune system

When trying to calm mast cells, the key is to reduce the number of flares. Eliminating triggers, lowering histamine levels, and getting on the right medication(s) are critical. Every time you have an allergic reaction, it reactivates the mast cells. This domino effect makes the body more sensitive to even minor triggers. The lower you can get your histamine levels and the longer you can go without an allergic-type reaction, the calmer the immune system becomes. In our experience, if you can go three months without a reaction, you are on the road to healing.

Essential steps for healing

Accepting that you have a problem.

This is a tough one. It reminds me of my daughter’s childhood friend, who was diagnosed with diabetes in second grade. After years of failing oral medications, he eventually received an insulin pump that inserts directly into his abdomen. It completely changed the type of sports he could play and the way he had to live his life. But within a year, he had adjusted and could do nearly everything other kids his age did, as long as he adhered to a routine.

My daughter had to come to grips with the fact that she may never be able to roll in the grass or eat many of her favorite foods again. She also had to accept that she’s lost five years of her life and a lot of childhood dreams. Not only that, but fighting our way through the medical system to a diagnosis and treatment left a lot of emotional scars and a type of trauma caused by medical treatment (iatrogenic)– very similar to post-traumatic stress disorder (PTSD). This is where I truly believe a compassionate therapist is needed.

So, to me, healing from MCAS not only requires lowering histamine levels and retraining your immune system, but also retraining your mind, creating a safe environment within your restrictions, and designing a lifestyle that continues to bring you joy.

Identifying your food triggers.

It may take months to find a doctor well-versed in MCAS. In the meantime, I recommend trying to identify your food triggers. A common method for determining food allergies is an “elimination diet.” You eliminate specific foods for one to three weeks, then systematically reintroduce them and watch for symptoms over the next several days.

If you react to a lot of foods, many doctors recommend starting by eliminating the American Academy of Allergy Asthma & Immunology’s eight foods responsible for most allergic reactions:

The secret to a healthy elimination diet is to add one healthy food for each food you cut out. For instance, when you eliminate wheat, you add in quinoa or another nutrient dense carbohydrate. (Read about elimination diets here: https://en.wikipedia.org/wiki/Elimination_diet)

After consulting with my daughter’s doctors and coming up with a list of low-histamine, nutrient-rich foods, we re-introduced them systematically, almost like low-dose immunotherapy.

The first day she would take a small bite and spit it out. If her mouth didn’t break out, the next day she would swallow a small bite, increasing the bite size each time until reaching a full serving. If her mouth tingled or broke out, we would wait several weeks before trying again. We opted to only add one new food every week so we could monitor immediate and delayed reactions. If she didn’t react, we knew these foods could be rotated into her diet every four days.

I will include more information about how we dealt with food issues in my next installment.

LymeSci is written by Lonnie Marcum, a Licensed Physical Therapist and mother of a daughter with Lyme. Follow her on Twitter: @LonnieRhea Email her at: lmarcum@lymedisease.org .

LYME SCI: The Agony of Mast Cell Activation Syndrome (MCAS)

Lonnie Marcum, March 2018

In the winter of 2016, my 17-year-old daughter was dying. She had severe allergic reactions every day, was in constant pain, and was losing weight at a rate that was not sustainable to life. She had reached the end of her rope, and I was completely out of ideas on where to turn for help.

Eighteen months earlier, after a long illness and finally completing treatment for Ehrlichia chaffeensis, Bartonella and Lyme disease, she had been doing great. Unfortunately, she soon caught the flu and then everything went south.

Over the next year, one setback after another landed her in the hospital every other month with atrial-fibrillation (irregular heartbeat) and/or near-anaphylaxis (acute allergic reactions). Each trip to the doctor took one more piece of hope away from us, since no one could pinpoint the cause of her rapid decline.

Over time, my daughter developed allergies to soaps, perfumes, juices, fruits, vegetables, and lunch meats. Eventually, she was down to only two foods that didn’t make her lips swell, mouth break out in blisters and throat tighten–sauteed chicken and brown rice noodles.

Not knowing what to do, I reached out in desperation to the “LymeParents” Yahoo group. Another mother recognized the symptoms I was describing as mast cell activation syndrome (MCAS) and connected me with Dr. Lawrence Afrin at University of Minnesota. Dr. Afrin consulted on my daughter’s case, then referred us to Dr. Mark Renneker, a mast cell specialist at the University of California, San Francisco.

Soon, she received a diagnosis of MCAS, and with it a path to healing.

Coincidentally, one month after my daughter’s diagnosis, I attended Dr. T.C. Theoharides’ lecture on mast cell activation at ILADS in Philadelphia. In his words:

Mast cells are the “universal alarm cell” that starts the inflammatory cascade. They can be triggered by infection, allergens, environmental factors like pollution, or even emotional stress. Once that happens, mast cells set into motion a series of inflammatory reactions, including the activation of immune cells and the release of tumor necrosis factor-alpha (TNF-a), a pro inflammatory protein or cytokine.

If you or a loved one are in a similar situation, here’s what you need to know.

The Diagnosis

MCAS is a clinical diagnosis based upon signs, symptoms and response to treatment. There are a number of tests available to confirm the diagnosis, but negative tests do not rule out MCAS.

Mast Cell Activation Diseases

Mast cells are a normal part of our immune system. They are located in every organ and connective tissue of the body. When mast cells detect stress, injury, toxins or infection, they release specific chemicals which trigger an immune response. Think of them as sentries or guards.

When mast cells perform properly, they are our friends. When mast cells are agitated or over-reactive, the immune system goes haywire and starts to attack the body, triggering auto-inflammatory processes or some types of autoimmune illnesses.

There are two major forms of mast cell activation diseases (MCAD)

Mastocytosis—the abnormal accumulation of mast cells in one or more organ systems (cardiovascular, central nervous, digestive, endocrine, genitourinary, lymphatic, muscular, peripheral nervous, respiratory) which is diagnosed by a bone marrow biopsy or a C-Kit genetic mutation.

PTSD of the Immune System

When I describe my daughter’s condition to non-medical folks, I say it’s like her immune system has post-traumatic stress disorder (PTSD). After going a year with multiple untreated infections, her immune system was very depleted, and the combination of antibiotics she needed to fight her infections added additional stress. As she completed antibiotic treatment for her infections, we added supplements to boost her immune system and promote healing. Or so we thought.

Unbeknownst to her doctors and me, one of her prescription medications (ketotifen) contained lactose, which she is intolerant to. In addition, she had developed an allergy to microcrystalline cellulose (MCC), one of the most common fillers in prescription medications, vitamins and supplements. Eliminating these allergens was a major turning point in her healing.

Step 3 Find the right combination of medications/supplements

Many people with mast cell issues will improve by taking antihistamines. Antihistamines are medications that block or inhibit the histamine receptors on mast cells and other cells found throughout the body.

Histamine is a unique chemical produced primarily by mast cells that causes inflammatory reactions and the itching feeling most of us are familiar with. Histamine also signals the immune system, regulates the digestive system, and acts as a neurotransmitter in the brain, spinal cord and uterus.

There are at least five different types of cells that respond to histamine (H1-H5 receptors) found throughout the body, although H1 and H2 appear to be the most common.

Antihistamines are classified by the type of receptor that they inhibit as listed below:

Step 4 Customize Nutrition

Patients with certain genetic defects are more prone to MCAD. Looking into your genetics can help determine your predisposition to MCAD and/or histamine intolerance and help you design a customized nutrition plan.

Genetic defects related to MCAS:

KIT-D816V—KIT is a master regulator protein found on and in mast cells. A KIT mutation typically results in the mast cell being constantly activated. About 90% of patients with mastocytosis have a KIT-D816V mutation (there is a PCR test for this mutation).

MTHFR—The body makes several enzymes called MTHFR that are critical for the production of folate and many cellular functions. Patients with MTHFR defects may have an inability to clear histamine leading to MCAS and histamine intolerance.

HNMT—In the central nervous system, histamine is broken down by histamine methyltransferase (HNMT). Patients with a lot of HNMT defects will have trouble clearing histamine from the brain and nerves. Moodiness, sleep disturbance and frequent rashes or hives can be a sign of this.

ABPI—In the digestive tract, histamine is broken down by diamine oxidase enzymes (DAO). Defects in ABPI lead to lower levels of DAO and higher levels of histamine.

HLA—Variations in the HLA gene can increase the chances of gluten intolerance.
VDR—VDR defects may lead to lower levels of Vitamin D, which is critical to immune health.

MAT—MAT gene is involved in the conversion of the amino acid methionine into SAMe. SAMe has 100s of critical functions throughout the body. If vitamin B12 makes you feel sick, you may have a lot of MAT defects. Your doctor can order blood work to check methionine and SAMe levels.

Nutrition

Genova Diagnostics, Tree of Life, Nutrahacker and Genetic Genie are the tools we used for my daughter. We also ran a complete vitamin and mineral panel to pinpoint nutrient deficiencies. Then, we designed a custom nutrition plan that was specific to her needs—I’ll describe it in detail in my next post.

Step 5 Stick to a Routine

Maintain the same sleep schedule
Maintain the same eating schedule
Maintain the same basic level of activity from day to day

Putting it all together

These steps may seem daunting. But when you are in a crisis like my daughter was, you are willing to go to extremes to get your life back. In my next post, I will share more details about what precisely we did.

Note: I am not a doctor. The information here represents my personal opinions and experiences. It is for informational purposes only—it is not intended to treat, diagnose, cure or prevent any disease.

LymeSci is written by Lonnie Marcum, a Licensed Physical Therapist and mother of a daughter with Lyme. Follow her on Twitter: @LonnieRhea Email her at: lmarcum@lymedisease.org .

Much Can Be Done to Ease ‘Chronic Fatigue Syndrome’ Symptoms

Miriam E. Tucker, March 12, 2018

SALT LAKE CITY, UT — The illness commonly known as chronic fatigue syndrome is complex and currently incurable, but clinicians can still do a great deal to manage symptoms and improve patients’ quality of life, experts agree.

In a 2-day meeting held March 2 and 3, 2018, specialists in the condition, now termed myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS), met to discuss their assessment and treatment approaches. The aim of the “summit,” organized by Lucinda Bateman, MD, and held at her Bateman-Horne Center facility here, was to initiate development of expert consensus ME/CFS guidance for primary care and specialist clinicians, and to identify research priorities to address major knowledge gaps.

“One of the messages I’d like to send to physicians is not to have an all-or-nothing approach to this illness, but to break it down into its parts, and see what you can get hold of with the history, objective markers, and clinical intuition. And then, it’s not unreasonable to try some things that are not harmful or expensive,” Bateman told Medscape Medical News.

The 13 panelists, who hail from primary care, infectious disease, immunology, neurology, endocrinology, pediatrics, and integrative medicine, discussed and prioritized elements of history-taking, physical exam findings, diagnostic tests, and treatment approaches for each of the illness’ major components. The core features include fatigue, impaired function, postexertional malaise, sleep dysregulation, neurocognitive impairment, and orthostatic intolerance; other commonly reported features are widespread pain, immune dysregulation, and infection.

Panel members focused on approaches they have found to be most helpful and that can be accomplished in primary care, as well as more advanced modalities that would be more feasible in specialty practices.

Assessing the Illness

The document the group produces will endorse the 2015 Institute of Medicine diagnostic criteria, which defineME/CFS as 6 months of unexplained fatigue with substantial functional impairment, postexertional malaise, unrefreshing sleep, and either cognitive dysfunction or orthostatic intolerance. The symptoms must be moderate to severe and present at least 50% of the time. (Five summit participants, including Bateman, were on the writing committee for that report, and three others served as reviewers for it.)

Assessing functional capacity is key, Bateman said.

“It’s an illness that impairs people’s ability to function in their daily lives. Clinicians need to ask about function, and what happens when people exert themselves both physically and cognitively.”

One revealing question is, “What would you be doing now if you weren’t ill?” Typically, as opposed to depressed patients, those with ME/CFS will have a laundry list. “Our patients are trapped in bodies that don’t work,” Bateman said. “They’re desperate to do more.”

Laboratory tests such as complete blood count with differential, complete metabolic panel, erythrocyte sedimentation rate and C-reactive protein, antinuclear antibody, rheumatoid factor, lipid panel, thyroid-stimulating hormone, and celiac screen should all be performed to investigate symptoms, but are often unhelpful. (As reported previously by Medscape Medical News, evidence suggests that the inflammatory cytokines involved in ME/CFS are different from those that induce C-reactive protein.)

In contrast, assessments that often yield valuable information in patients with ME/CFS include evaluation for orthostatic intolerance and autonomic dysregulation (ideally via tilt-table, but also can be accomplished with the 10-minute “Lean” test), and laboratory tests for Lyme immunoglobulin G (IgG) and IgM;lymphocyte subsets; IgG subclasses; Epstein-Barr virus, including early antigen antibody; herpes viruses; urine or serum markers of mast cell activation syndrome; small intestinal bacterial overgrowth; and natural killer cell function (almost universally low in patients with ME/CFS).

Brain imaging with magnetic resonance imaging or electroencephalography may be indicated in patients who exhibit “brain fog,” headaches, or other neurocognitive symptoms.

“A lot of the testing we do is the differential diagnosis, and we’re looking for comorbid conditions, treatment targets, and subgroups, like people with [small intestinal bacterial overgrowth] or mast cell activation. In the clinical setting, we don’t have to make sense of it all. We just have to identify it, and see if the patient responds to treatment,” Bateman said.

Mast Cell Activation: When the Immune System Goes Haywire

Mast cell

We’re hearing from increasing numbers of Lyme patients who have suddenly developed serious allergic reactions to foods they used to be able to eat with no problem whatsoever. Many have learned that this can be a sign of Mast Cell Activation Syndrome (MCAS). Sometimes, the condition is referred to as Mast Cell Activation Disorder (MCAD).

So what exactly is MCAS, anyway? And what can be done about it?

Mast cells are part of the immune system and are present in nearly every tissue of the body. Their purpose is to signal when a toxin, infection or foreign invader has entered the body, so that the immune system can then launch the proper attack.

When operating properly, mast cells are our friends. But when the system goes haywire and too many mast cells are triggered at once, this can result in massive inflammation that brings all kinds of problems.
Symptoms of MCAS can include skin rashes or hives, lip swelling, extremity swelling, itching, flushing, abdominal pain, digestive issues, nausea, diarrhea, asthma, heart palpitations, anxiety, depression, lack of concentration, low blood pressure, and fatigue.

In the following “Better Health Guy” video, Scott Forsgren interviews Dr. Jill Carnahan, who treats patients with MCAS in her functional medicine practice in Louisville, Colorado.